NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly) AND Pigmentary retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002249143.1
Allele description [Variation Report for NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)]
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)
Condition(s)
- Name:
- Pigmentary retinal dystrophy
- Synonyms:
- Fundus albipunctatus
- Identifiers:
- MONDO: MONDO:0007639; MedGen: C0311338; Orphanet: 227796; Orphanet: 52427; OMIM: 136880; Human Phenotype Ontology: HP:0030642
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chondrolectin isoform 1 precursor [Mus musculus]
chondrolectin isoform 1 precursor [Mus musculus]gi|110625876|ref|NP_624360.2|Protein
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Citrobacter freundii strain 874_CKOS 585_2955_371593, whole genome shotgun seque...
Citrobacter freundii strain 874_CKOS 585_2955_371593, whole genome shotgun sequencegi|875300108|gb|JUPT01000200.1||gnl JUPT01|585_2955_371593Nucleotide
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Citrobacter freundii strain 873_CKOS 42_1336_206132, whole genome shotgun sequen...
Citrobacter freundii strain 873_CKOS 42_1336_206132, whole genome shotgun sequencegi|875300219|gb|JUPU01000013.1||gnl JUPU01|42_1336_206132Nucleotide
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AGENCOURT_11031166 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:6859363 5', mRN...
AGENCOURT_11031166 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:6859363 5', mRNA sequencegi|26031624|gnl|dbEST|15598947|gb|C 07.1|Nucleotide
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Last Updated: Oct 20, 2024